CONNECTING FAMILIES TO RESEARCH

From the beginning, Rettsyndrome.org (RSO) has been dedicated to accelerating research for the treatment and cure of Rett syndrome. We are equally dedicated to connecting families with information and tools to persevere through the many challenges they face while they wait for a cure. The generous support of our families and donors has allowed us to both fuel research and empower families. Rettsyndrome.org Executive Director Melissa Kennedy, shared,”Exciting possibilities are on the horizon for our loved ones; advancements in research are bringing us closer to therapies that will radically improve the lives of thousands living with Rett syndrome. Now is the time to prepare for the next step."

In December, the RSO’s board of directors approved an additional $2 million to support new discoveries toward treatments and a cure, to develop the next generation of Rett syndrome experts, and to enhance a nation-wide clinical infrastructure that ensures people living with Rett syndrome have access to high-quality care and treatment. In addition to leading research, we must work to ensure that clinics are fully prepared to bring clinical research opportunities close to families.

ENSURING EVERYONE BENEFITS

While Rett syndrome research has made incredible advancements, many unanswered questions about Rett syndrome remain. Fueling new discoveries will allow us to serve the entire population of individuals with Rett syndrome. Rettsyndrome.org CSO Steve Kaminsky, PhD said, “There are over 900 mutations of the gene that causes Rett syndrome. It is essential that we look at all aspects of research to develop multiple interventions so girls, women and boys have a chance at life-changing treatments and a cure.” In our ongoing effort, RSO has committed to advance basic science, continuing to fund the best and the brightest researchers, throughout the US, as well as internationally.

While we watch the advancements in basic science, we are encouraged to know that there are therapies which currently exist that will meaningfully improve the quality of life of families living with Rett syndrome today. RSO is continuing to accelerate research through our proprietary Scout Program. The Scout program looks at compounds designed to treat other diseases to see if they can be repurposed for Rett syndrome. There has been significant success in this program; three compounds have progressed to clinical trial, with one entering phase 3 later this year.

MAKING RESEARCH A REALITY

We are proud of our successful investments in research. But research is only as good as the clinic infrastructure in place to support it. To that end, RSO has committed to support the development of a “best in class”, national clinic infrastructure. As more studies become available from pharmaceutical companies, we will need increased participation from our community. Rett Syndrome clinics or Natural History Study sites, many of which have been designated Rettsyndrome.org Clinical Research Centers of Excellence, will likely participate in the clinical trials. RSO’s Medical Advisor, Timothy Benke, MD, PhD, said, “Our clinics are eager for a care model built on evidence as well as compassion. I believe families, clinicians, researchers and even pharmaceutical companies will benefit from this work.” With Dr. Benke, RSO will lead a collaborative of Rett clinics to identify evidence-based care for families.

Finally, we are committed to expanding the network of Rett syndrome clinics. With more clinics, we can ease the burden on our families who cannot access available resources and opportunities currently. A fundamental part of RSO’s mission is to expand the team of researchers dedicated to Rett syndrome. Engaging researchers during their postdoctoral work boosts the potential for future discoveries and recruits additional Rett syndrome experts to care for our kids. RSO has made a significant financial commitment to cultivate next generation leaders through our Mentored Training and Clinical Training Fellowships.

To date, Rettsyndrome.org has invested $46 million in research, and we are excited not only to provide evidence-based care but to prepare our community to take advantage of research toward life-changing treatments and a cure.

View our newly funded research in detail.